Summaries for Pierson Syndrome

NIH Rare Diseases
:49
Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness.Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner. The long-term outlook is poor; affected infants may not survive past the first weeks or months of life.
Last updated: 3/23/2016

OMIM
:53
Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004).
Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199). (609049)

UniProtKB/Swiss-Prot
:71
Pierson syndrome: Characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome.

Disease Ontology
:12
An autosomal recessive disease characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has material basis in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21.

Symptoms & Phenotypes for Pierson Syndrome

Symptoms via clinical synopsis from OMIM:

Neurologic Central Nervous System:blindnesshypotoniapsychomotor retardation in those that survivenormal cognition (reported in 1 patient who survived to age 20 years)

Neurologic Peripheral Nervous System:areflexia

Head And Neck Eyes:blindnesshypoplasia of the irisnonreactive, fixed narrowing of the pupil ('microcoria')aplasia or atrophy of the dilatator pupillae musclehypoplasia of the ciliary bodylenticonus posteriordecreased or absent laminin beta-2 immunoreactivity in tissues of the anterior eyemore